FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4300688310> ?p ?o ?g. }

• W4300688310 endingPage "240" @default.
• W4300688310 startingPage "229" @default.
• W4300688310 abstract "Ras-related C3 botulinum toxin substrate 2 (RAC2) acts as a molecular switch and has crucial roles in cell signaling and actin dynamics. A broad spectrum of genetic RAC2 mutations can cause various types of primary immunodeficiency, with complete penetrance. Here, we report a novel heterozygous missense mutation in RAC2 with incomplete penetrance, and the associated phenotypes, in a Chinese family.Immunological phenotype was detected by flow cytometry. T cell receptor excision circles (TRECs) and K-deleting recombination excision circles (KRECs) were assessed by real-time quantitative PCR. Gene mutations were detected by whole-exome sequencing (WES) and confirmed by Sanger sequencing.The proband was an 11-year-old girl who presented with recurrent respiratory infections, bronchiectasis, persistent Epstein-Barr virus viremia, infectious mononucleosis, encephalitis, and cutaneous human papillomavirus infections. Laboratory analyses revealed increased serum IgG and decreased IgM levels, reduced naïve CD4+ and CD8+ T cells, an inverted CD4+/CD8+ ratio, and low TREC and KREC numbers. The mutation resulted in increased production of reactive oxygen species, while impaired actin polarization in neutrophils; diminished proliferative responses, increased cytokine production and a dysregulated phenotype in T lymphocytes; as well as accelerated apoptosis and hyperactivity of AKT in HL-60 human leukemia cells. WES identified a c.44G > A mutation in RAC2 resulting in a p.G15D substitution. Despite sharing the same mutation as the proband, her father suffered from recurrent respiratory infections and bronchiectasis, and had similar immunological defects, whereas her sister was apparently healthy, other than cutaneous human papillomavirus infections, and only mild immunological defects were detected preliminarily.Our findings broaden the clinical and genetic spectra of RAC2 mutations and underline the importance of RAC2 gain-of-function mutations with complete or incomplete penetrance." @default.
• W4300688310 created "2022-10-04" @default.
• W4300688310 creator A5013395751 @default.
• W4300688310 creator A5029892501 @default.
• W4300688310 creator A5039045813 @default.
• W4300688310 creator A5046143188 @default.
• W4300688310 creator A5053500906 @default.
• W4300688310 creator A5066599847 @default.
• W4300688310 creator A5079977131 @default.
• W4300688310 creator A5090816390 @default.
• W4300688310 creator A5090819151 @default.
• W4300688310 creator A5091179510 @default.
• W4300688310 date "2022-10-03" @default.
• W4300688310 modified "2023-09-23" @default.
• W4300688310 title "A Novel RAC2 Mutation Causing Combined Immunodeficiency" @default.
• W4300688310 cites W1517767834 @default.
• W4300688310 cites W1574220082 @default.
• W4300688310 cites W1978359080 @default.
• W4300688310 cites W1997537329 @default.
• W4300688310 cites W2007493127 @default.
• W4300688310 cites W2028738554 @default.
• W4300688310 cites W2031545497 @default.
• W4300688310 cites W2035754589 @default.
• W4300688310 cites W2042209974 @default.
• W4300688310 cites W2051978340 @default.
• W4300688310 cites W2066591078 @default.
• W4300688310 cites W2071199281 @default.
• W4300688310 cites W2075238900 @default.
• W4300688310 cites W2080625195 @default.
• W4300688310 cites W2085213378 @default.
• W4300688310 cites W2135743634 @default.
• W4300688310 cites W2512972788 @default.
• W4300688310 cites W2513184125 @default.
• W4300688310 cites W2791781256 @default.
• W4300688310 cites W2803081151 @default.
• W4300688310 cites W2909282987 @default.
• W4300688310 cites W2911871438 @default.
• W4300688310 cites W2943966171 @default.
• W4300688310 cites W2964589702 @default.
• W4300688310 cites W2968164462 @default.
• W4300688310 cites W2971437203 @default.
• W4300688310 cites W3000320124 @default.
• W4300688310 cites W3008036448 @default.
• W4300688310 cites W3035171839 @default.
• W4300688310 cites W3104807408 @default.
• W4300688310 cites W3126918168 @default.
• W4300688310 cites W4281249549 @default.
• W4300688310 doi "https://doi.org/10.1007/s10875-022-01373-8" @default.
• W4300688310 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36190591" @default.
• W4300688310 hasPublicationYear "2022" @default.
• W4300688310 type Work @default.
• W4300688310 citedByCount "2" @default.
• W4300688310 countsByYear W43006883102023 @default.
• W4300688310 crossrefType "journal-article" @default.
• W4300688310 hasAuthorship W4300688310A5013395751 @default.
• W4300688310 hasAuthorship W4300688310A5029892501 @default.
• W4300688310 hasAuthorship W4300688310A5039045813 @default.
• W4300688310 hasAuthorship W4300688310A5046143188 @default.
• W4300688310 hasAuthorship W4300688310A5053500906 @default.
• W4300688310 hasAuthorship W4300688310A5066599847 @default.
• W4300688310 hasAuthorship W4300688310A5079977131 @default.
• W4300688310 hasAuthorship W4300688310A5090816390 @default.
• W4300688310 hasAuthorship W4300688310A5090819151 @default.
• W4300688310 hasAuthorship W4300688310A5091179510 @default.
• W4300688310 hasBestOaLocation W43006883102 @default.
• W4300688310 hasConcept C104317684 @default.
• W4300688310 hasConcept C12125453 @default.
• W4300688310 hasConcept C127716648 @default.
• W4300688310 hasConcept C147483822 @default.
• W4300688310 hasConcept C159047783 @default.
• W4300688310 hasConcept C167672396 @default.
• W4300688310 hasConcept C200544954 @default.
• W4300688310 hasConcept C203014093 @default.
• W4300688310 hasConcept C2777607303 @default.
• W4300688310 hasConcept C2780190958 @default.
• W4300688310 hasConcept C501734568 @default.
• W4300688310 hasConcept C502942594 @default.
• W4300688310 hasConcept C54355233 @default.
• W4300688310 hasConcept C75563809 @default.
• W4300688310 hasConcept C86803240 @default.
• W4300688310 hasConcept C8891405 @default.
• W4300688310 hasConceptScore W4300688310C104317684 @default.
• W4300688310 hasConceptScore W4300688310C12125453 @default.
• W4300688310 hasConceptScore W4300688310C127716648 @default.
• W4300688310 hasConceptScore W4300688310C147483822 @default.
• W4300688310 hasConceptScore W4300688310C159047783 @default.
• W4300688310 hasConceptScore W4300688310C167672396 @default.
• W4300688310 hasConceptScore W4300688310C200544954 @default.
• W4300688310 hasConceptScore W4300688310C203014093 @default.
• W4300688310 hasConceptScore W4300688310C2777607303 @default.
• W4300688310 hasConceptScore W4300688310C2780190958 @default.
• W4300688310 hasConceptScore W4300688310C501734568 @default.
• W4300688310 hasConceptScore W4300688310C502942594 @default.
• W4300688310 hasConceptScore W4300688310C54355233 @default.
• W4300688310 hasConceptScore W4300688310C75563809 @default.
• W4300688310 hasConceptScore W4300688310C86803240 @default.
• W4300688310 hasConceptScore W4300688310C8891405 @default.
• W4300688310 hasIssue "1" @default.

• next